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Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria
1Department of Pathology (Neuropathology); Stanford University Medical Center, California 94305-5324, USA.
Pediatric Neurology
|November 1, 1996
Summary
The Pena-Shokeir phenotype in infants involves brain abnormalities like polymicrogyria, potentially causing swallowing and facial movement issues. This suggests a link between this condition and hypoxic-ischemic injury during development.
Area of Science:
- Neurology
- Developmental Biology
- Pathology
Background:
- The Pena-Shokeir phenotype is a rare congenital disorder characterized by multiple joint contractures.
- Previous research has linked bilateral opercular polymicrogyria to Foix-Chavany-Marie syndrome.
Observation:
- Autopsy of an infant with Pena-Shokeir phenotype showed bilateral opercular polymicrogyria.
- Neuronal loss and ferrugination were observed in the basal ganglia, thalamus, brainstem, and spinal anterior horns.
Findings:
- Bilateral opercular polymicrogyria may contribute to swallowing and facial movement deficits in Pena-Shokeir phenotype.
- The observed pattern of central nervous system injury supports a hypoxic-ischemic etiology.
Implications:
- Findings suggest hypoxic-ischemic injury as a potential cause for Pena-Shokeir phenotype and arthrogryposis multiplex congenita.
- Understanding these neuropathological findings can aid in diagnosing and managing related congenital disorders.